Canonical Allele Identifier: CA1127215284

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828305742
• gnomAD v3: 9-98541602-GCCAC-G
• gnomAD v4: 9-98541602-GCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541603_98541606del , CM000671.2:g.98541603_98541606del	GRCh38
NC_000009.11:g.101303885_101303888del , CM000671.1:g.101303885_101303888del	GRCh37
NC_000009.10:g.100343706_100343709del	NCBI36
NG_016426.1:g.172592_172595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+267_630+270del MANE Select	ENSP00000259455.2:n.630+267_630+270del
ENST00000637410.1:n.408+267_408+270del
ENST00000259455.3:c.630+267_630+270del	ENSP00000259455.2:n.630+267_630+270del
ENST00000477471.1:n.417+267_417+270del
ENST00000634227.1:n.404+267_404+270del
NM_005458.7:c.630+267_630+270del	NP_005449.5:n.630+267_630+270del
XM_017015331.2:c.336+267_336+270del	XP_016870820.1:n.336+267_336+270del
NM_005458.8:c.630+267_630+270del MANE Select	NP_005449.5:n.630+267_630+270del